selenose

Selenose is a non-contagious genetic disorder characterized by a deficiency of the enzyme selenium-binding protein 1 (SELENBP1). This deficiency leads to an accumulation of selenomethionine in the body, which can cause a range of symptoms. The most prominent and characteristic symptom of selenose is an intense, unpleasant odor emanating from the body, often described as garlicky or reminiscent of rotten eggs. This odor is due to the excretion of excess selenomethionine and its metabolites through sweat and breath.

Other potential symptoms of selenose can include neurological issues such as developmental delay, intellectual disability, and seizures. Some individuals may also experience gastrointestinal problems, feeding difficulties, and a failure to thrive. The severity of symptoms can vary greatly among affected individuals.

Selenose is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated SELENBP1 gene, one from each parent, to develop the disorder. Diagnosis is typically made through genetic testing to identify mutations in the SELENBP1 gene and biochemical tests to confirm the elevated levels of selenomethionine.

Currently, there is no cure for selenose. Treatment focuses on managing the symptoms and improving the quality of life for affected individuals. This may involve dietary modifications to reduce selenium intake, although this can be challenging as selenium is present in many common foods. Supportive care for neurological and developmental issues is also a crucial part of management. Research is ongoing to explore potential therapeutic strategies.